Glycogen Storage Disease Type I News and Research

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New, sensitive screening test may allow clinicians to accurately detect Pompe disease

Researchers identified a new, more sensitive screening test to recognize Pompe disease, a metabolic disorder affecting cellular processing of glycogen in numerous tissues of the body.

2 Jan 2018

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

New University of Florida research center to focus on rare genetic illness

With the support of a Major League Baseball star, a new University of Florida research center on an island settled by the Vikings could lead to breakthroughs about a rare genetic disorder and potentially change the course of care for high blood pressure and other common conditions.

10 May 2012

Good news for people with glycogen storage disease type Ia

A gene therapy treatment that restores a missing liver enzyme in test animals could provide a cure for a rare metabolic disorder in humans, according to Duke University Medical Center researchers.

13 Mar 2008